October 2010 · Issue 11 EHDN News EUROPEAN HUNTINGTON‘S DISEASE NETWORK CONTENT Click the Page EHDN 2010 1 HD Calendar 2010/2011 12 www.euro-hd.net Subscribe here to the EHDN Newsletter: Please go to the URL below and fill out the online form: http://www.euro-hd.net/html/network/ communication/newsletter Please send us your comments, sugges- tions and overall feedback: [email protected] Imprint: Editorial Board of the EHDN Newsletter: Prof. Gillian Bates (King’s College London School of Medicine, London, UK), Prof. Jenny Morton (University of Cambridge, Cambridge, UK), Dr. Diana Raffelsbauer (PharmaWrite, Giebelstadt, Germany), Dr. Jenny Townhill (Cardiff University, Cardiff, UK), Christiane Lohkamp (IHA, Stuttgart, Joseph Jankovic (Houston) and Bernhard Landwehrmeyer, Chairman of EHDN Germany), Gabriele Stautner (Artifox Communication Design, Ulm, Germany). © 2010 European Huntington’s Disease Net- FEATURE ARTICLE work, Chairman Prof. G.B. Landwehrmeyer, Oberer Eselsberg 45/1, 89081 Ulm, Germany By Diana Raffelsbauer, Freelance Medical Writer, Pharmawrite, Germany The information contained in this newsletter is subject to the European HD Network Liability Disclaimer, which can be found at EHDN 2010 http://www.euro-hd.net/html/disclaimer. –Please consult a doctor for medical advice– The largest meeting ever devoted to Except as otherwise noted, this work is licensed under the Creative Commons Huntington’s disease Attribution-No Derivative Works 3.0 Unported License. The European Huntington’s Disease Network (EHDN) invited its members to attend the 6th EHDN Plenary Meeting (EHDN 2010) in Prague. With more than 650 participants, this was the largest scientific meeting ever dedicated exclusively to Huntington’s disease (HD). Why Prague? Besides being a wonderful city, Prague and HD have historical links. In her presentation, Christiane Lohkamp (Stuttgart) told us that the patron of Prague is Saint Vitus, after whom HD was initially named (as St. Vitus’ dance). The martyr St. Vitus is one of the Fourteen Holy Helpers and is believed to have many healing skills, especially for movement disorders and diseases of the nervous system. St. Vitus Welcome The Chairman of EHDN, Bernhard Landwehrmeyer (Ulm), welcomed the attendees and encouraged them to actively participate in discussions. To facilitate the participation of the large number of attendees from the Czech Republic and Poland, especially non-healthcare professionals from HD- affected families, simultaneous translations into Czech and Polish were provided. The programme of the meeting, carefully selected by the Organis- ing Committee that was chaired by Joaquim Ferreira (Lisbon), covered a 6TH EHDN PLENARY MEETING 2010 PRAGUE EUROPEANEHDN HUNTINGTON’SNews 2DISEASE NETWORK By Diana Raffelsbauer, Freelance Medical Writer, Pharmawrite, Germany October 2010 · Issue 11 wide range of topics. Scientists came ready to share alleles between 27 and 35, whilst not causing disease, their unpublished data in a bid to accelerate research in some cases, can expand into the mutant range when aimed at finding treatments for HD. The progress in HD passed onto the following generation. Joseph Jankovic research has been tremendous since our last meeting in (Houston) presented evidence from clinical practice that Lisbon in 2008, especially in the fields of neuroimaging individuals with less than 36 CAGs develop HD; how- and other assessment tools for premanifest HD, deep ever Arvid Heiberg (Oslo) argued that this is unlikely to brain stimulation, gene silencing, HD mouse models, be the case. Approximately 1% of people who develop networks and systems biology. Recent results from these symptoms that look like HD do not have a CAG expan- research strands were the highlights of the meeting. sion. In some cases, they are found to have a mutation in another gene, but in most cases, the cause of the dis- Local host Jan Roth (Prague) described how the situation ease is unknown. Intermediate alleles are quite common of HD patients and their families in the Czech Republic (more than 4% of the general population) and therefore has improved thanks to the pioneering work of geneticist it is possible that by chance, some people carrying inter- and founder of the Czech Huntington Association Jana mediate alleles will develop symptoms that look like HD. Židovská. This ultimately led to the creation of a multidis-multidis- ciplinary clinical team for HD, now part of the movement Genetic counselling was the topic addressed by Marina disorders centre at Prague’s Charles University. Frontali (Rome), who drew the attention of the audi- Jiri Hruda (Pardubice) from the Czech Huntington ence to the complexity of predictive genetic testing for Association addressed the meeting participants as “the HD, which has psychological, social, legal and ethical fighters of HD”. He said that they were impatient for implications. The mutation in the HD gene (HTT) was results, thus reiterating the importance of a close rela- identified in 1993, and the guidelines for predictive test- tionship between scientists, healthcare professionals and ing for HD were published in 1994. Together with Gerry HD families. Evers-Kiebooms and members of the EHDN Genetic Testing and Counselling Working Group, Frontali has Hot topics been working on revising and updating these guidelines. As has become customary at EHDN plenary meetings, Controversial topics include the implications of carrying the conference opened with a ‘hot topics’ session at intermediate alleles, the predictive testing of minors, the which four hot topics were subjected to a lively debate. disclosure of the size of the expanded CAG repeat, and The first topic considered whether there are HD patients post-counselling information on prodromal signs / the with fewer than 36 CAGs. A repeat of 40 CAGs is a possibility of participating in clinical trials for premani- fully penetrant mutation, repeats of 36-39 show incom- fest HD gene mutation carriers. plete penetrance, but repeats of 35 and less are cur- rently considered to be non-pathogenic. Intermediate 6TH EHDN PLENARY MEETING 2010 PRAGUE EUROPEANEHDN HUNTINGTON’SNews 3DISEASE NETWORK By Diana Raffelsbauer, Freelance Medical Writer, Pharmawrite, Germany October 2010 · Issue 11 Sheila Simpson (Aberdeen) and Stephen Smith (Norfolk) endpoints, dose, trial duration, time point of visits, etc. enacted an entertaining and informative ‘role play’ to “It is clear that we have to understand the biology of HD highlight the pros and cons of caring for HD patients at better as well as how the target or mechanism of action home as compared to in a nursing home. They communi- of the compound relates to the disease biology and how cated the burden of caring for someone affected by HD, to optimally execute disease-modifying trials”, said van the concerns associated with opting for institutionalised Kammen. care, and the guilt caused by choosing this option. But they also demonstrated how professional carers could Ongoing HD clinical trials assist family members who are struggling to make this Whilst the discussion on whether we are able to mea- decision. They expressed the needs of HD families for sure disease modification in HD continues, exciting specialised community-based clinical support in the form results from studies using potential treatments for HD of nursing-at-home programmes that allow people to live were presented. Lars Wojtecki (Düsseldorf) and Jan Ves- at home for as long as possible. per (Düsseldorf) showed preliminary results from a pilot trial of deep brain stimulation (DBS) in HD patients that While HD families are eagerly awaiting clinical tri- was conceived within the EHDN Surgical Approaches als, EHDN 2010 dedicated a hot topic session to the Working Group. The procedure consists of implanting question of whether we are ready to measure a disease- electrodes in the area of the brain known as the globus modifying effect in HD. Based on examples from both pallidus (GP) and stimulating neurones by electrical observational and interventional trials that have been impulses using a device placed under the skin. This conducted in HD, Karl Kieburtz (Rochester) claimed that technique has been successfully used in patients with the tools are already available, e.g. UHDRS1 (-TFC2 and Parkinson’s disease and dystonia. The group led by Prof. -TMS3) and MMSE4, although these are only sensitive Vesper has studied two different DBS schemes: stimula- in manifest patients. The changes over time on these tion of the internal GP followed by the external GP each scales vary between individuals in the natural history of for 6 weeks, or vice versa. Preliminary data from the the disease and are expected to be smaller in treated first four patients of a total of six have shown that the patients. Dan van Kammen (Princeton) argued that our procedure is safe with no surgical complications and assessment tools are not sensitive enough for detecting no cognitive decline. Effects on motor performance are clinical improvements. He highlighted the critical param- promising, but variable, differing between individuals, eters of trial design: parallel versus delayed start, study the stimulation sites used and the motor domain affected population (inclusion and exclusion criteria), choice of (dystonia vs. chorea vs. hypokinesia). Importantly, all patients in the study have subjectively reported improve- 1 Unified Huntington’s Disease Rating Scale ments in daily living. Long-term effects have yet to be 2 Total Functional Capacity determined, and more